For many years, muscle biopsy has been considered the “best” way to obtain an accurate diagnosis of mitochondrial disease. Muscle biopsy is costly, it is invasive, and is occasionally controversial with results that can be difficult for patients and families to understand.
Will there ever be an alternative to muscle biopsy testing for children and adults with suspected mitochondrial disorders? When does someone need a muscle biopsy? Why (and when) is a muscle biopsy necessary?
Dr. Fran Kendall from Virtual Medical Practice in Atlanta, Georgia updates us on the latest approaches to testing for mitochondrial disease.
- Muscle biopsies – why are they done?
- How do muscle biopsies help with a diagnosis?
- Fresh vs. frozen – is one better?
- Cost factors for Mito muscle testing
- Emerging trends in enzymology: buccal swab studies
- The need to identify causative Mito genes.